Monogenetic determinants of Alzheimer's disease: APP mutations

Cellular and Molecular Life Sciences

Volumn 54, Issue 9, 1998, Pages 897-901

  Goate, A M ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

A 42; Age of onset; APOE; APP; Proteolytic cleavage

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E;

ALZHEIMER DISEASE; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN; BRAIN HEMORRHAGE; EXON; FAMILIAL DISEASE; GENE MUTATION; HUMAN; ONSET AGE; PROTEIN DEGRADATION; PROTEIN PROCESSING;

AGE OF ONSET; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; ANIMALS; APOLIPOPROTEINS E; BRAIN; CEREBRAL HEMORRHAGE; DISEASE MODELS, ANIMAL; EXONS; GENES, DOMINANT; HUMANS; MICE; MICE, KNOCKOUT; MICE, TRANSGENIC; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 0031715512     PISSN: 1420682X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s000180050218     Document Type: Article

References (50)

1. Nee L. E., Polinsky R. J., Eldridge R., Weingartner H., Smallberg S. and Ebert M. (1983) A family with histologically confirmed Alzheimer's disease. Arch. Neurol. 40: 203-208
2. Goate A., Chartier-Harlin M. C., Mullan M., Brown J., Crawford F., Fidani L. et al. (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704-706
3. Naruse S., Igarashi S., Kobayashi H., Aoki K., Inuzuka T., Kaneko K. et al. (1991) Mis-sense mutation Val → Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. Lancet 337: 978-979
4. Yoshioka K., Miki T., Katsuya T., Ogihara T. and Sakaki Y. (1991) The 717Val → Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. Biochem. Biophys. Res. Commun. 178: 1141-1146
5. Karlinsky H., Vaula G., Haines J. L., Ridgley J., Bergeron C., Mortilla M. et al. (1992) Molecular and prospective phenotypic characterization of a pedegree with familial Alzheimer's disease and a missense mutation in codon 717 of the β-amyloid precursor protein gene. Neurology 42: 1445-1453
6. Sorbi S., Nacmias B., Forleo P., Piacentini S., Amaducci, L. and Provincali L. (1993) APP717 and Alzheimer's disease in Italy. Nature Genet. 4: 10
7. Brooks W. S., Martins R. N., De Voecht J., Nicholson G. A., Schofield P. R., Kwok J. B. et al. (1995) A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease. Neurosci. Lett. 199: 183-186
8. Sorbi S., Nacmias B., Forleo P., Piacentini S., Latorraca S. and Amaducci L. (1995) Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease. Ann. Neurol. 38: 124-127
9. Campion D., Brice A., Hannequin D., Charbonnier F., Dubois B., Martin C. et al. (1996) No founder effect in three novel Alzheimer's disease families with APP717 Val → Ile mutation. J. Med. Genet. 33: 661-664
10. Chartier-Harlin M. C., Crawford F., Houlden H., Warren A., Hughes D., Fidani L. et al. (1991) Early onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature 353: 844-846
11. Murrell J., Farlow M., Ghetti B. and Benson M. (1991) A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 254: 97-99
12. Eckman C. B., Mehta N. D., Crook R., Perez-tur J., Prihar G., Pfeiffer E. et al. (1997) A new pathogenic mutation in the APP gene (1716V) increases the relative proportion of Aβ42/43. Hum. Mol. Genet. 6: 2087-2090
13. Mullan M., Crawford F., Axelman K., Houlden H., Lilius L., Winblad B. et al. (1992) A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid. Nature Genet. 1: 345-347
14. Levy E., Carman M. D., Fernandez-Madrid I. J., Power M. D., Lieberburg I., van Duinen S. G. et al. (1990) Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 248: 1124-1126
15. Hendriks L., van Duijn C. M., Cras P., Cruts M., Van Hul W., van Harskamp F. et al. (1992) Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nature Genet. 1: 218-221
16. Chartier-Harlin M. C., Crawford F., Hamandi K., Mullan M., Goate A., Hardy J. et al. (1991) Screening for the β-amyloid precursor protein mutation (APP: Va → Ile) in extended pedigrees with early onset Alzheimer's disease. Neurosci. Lett. 129: 134-135
17. Crawford F., Hardy J., Mullan M., Goate A., Hughes D., Fidani L. et al. (1991) Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence. Neurosci. Lett. 133: 1-2
18. Schellenberg G. D., Anderson L., O'dahl S., Wisman E. M., Sandovnick A. D., Ball M. J. et al. (1991) APP717, APP693 and PRIP gene mutations are rare in Alzheimer disease. Am. J. Hum. Genet. 49: 511-517
19. Tanzi R., Vaula G., Romano D. M., Mortilla M., Huang T. L., Tupler R. G. et al. (1992) Assessment of amyloid beta-protein pecursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am. J. Hum. Genet. 51: 273-282
20. Fidani L., Rooke K., Chartier-Harlin M. C., Hughes D., Tanzi R., Mullan M. et al. (1992) Screening for mutations in the open reading frame and promoter of the β-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val → Ile. Hum. Mol. Genet. 1: 165-168
21. Hardy J. and Mullan M. (1992) In search of the soluble. Nature 359: 268-269
22. St. George-Hyslop P., Crapper-McLachlan D., Tsud T., Rogaev E., Karlinsky H., Lippa C. et al. (1994) Alzheimer's disease and possible gene interaction. Science 263: 441-580
23. Fox N., Warrington E. K., Freeborough P. A., Hartikainen P., Kennedy A. M., Stevens J. M. et al. (1996) Presymptomatic hippocampal atrophy in Alzheimer's disease. A longitudinal MRI study. Brain 119: 2001-2007
24. Mullan M., Tsuji S., Miki T., Katsuya T., Naruse S., Kaneko K. et al. (1993) Clinical comparison of Alzheimer's disease in pedigrees with codon 717 Val-Ile mutation in the amyloid precursor protein gene. Neurobiol. Aging 14: 407-419
25. Lopera F., Ardilla A., Martinez A., Madrigal L., Arango-Viana J. C., Lemere C. A. et al. (1997) Clinical features of early onset Alzheimer's disease in a large kindred with an E280A presenilin mutation. JAMA 277: 793-799
26. Iwatsubo T., Odaka A., Suzuki N., Mizusawa H., Nukina N. and Ihara Y. (1994) Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: evidence that an initially deposited species is Aβ42(43). Neuron 13: 45-53
27. Lemere C. A., Lopera F., Kosik K. S., Lendon C. L., Ossa J., Saido T. C. et al. (1996) The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology. Nature Med. 2: 1146-1150
28. Esch F. S., Keim P. S., Beattie E. C., Blacher R. W., Culwell A. R., Ottersdorf T. et al. (1990) Cleavage of amyloid beta peptide during constitutive processing of its precursor. Science 248: 1122-1124
29. Sisodia S., Koo E., Beyreuther K., Unterbeck A. and Price D. (1990) Evidence that beta-amyloid protein in Alzheimer's disease is not derived by normal processing. Science 248: 492-495
30. Haass C., Koo E., Mellon A., Hung A. and Selkoe D. (1992) Targeting of cell-surface β-amyloid precursor protein to lysosomes: alternative processing into amyloid-bearing fragments. Nature 357: 500-503
31. Haass C., Schlossmacher M. G., Hung A. Y., Vigo-Pelfrey C., Mellon A., Ostaszewski B. L. et al. (1992) Amyloid β-peptide is produced by cultured cells during normal metabolism. Nature 359: 322-325
32. Seubert P., Vigo-Pelfrey C., Esch F., Lee M., Dorey H., Davis D. et al. (1992) Isolation and quantification of soluble Alzheimer's β-peptide from biological fluids. Nature 359: 325-327
33. Cooke D., Froman M., Sung J., Leight S., Kolson D., Iwatsubo T. et al. (1997) Alzheimer's Aβ(1-42) is generated in the endoplasmic reticulum/intermediate compartment of NT2N cells. Nature Med. 3: 1021-1023
34. Hartmann T., Bieger S. C., Bruhl B., Tiernari P. J., Ida N., Allsop D. et al. (1997) Distinct sites of intracellular production of Alzheimer's disease Aβ40/42 amyloid peptides. Nature Med. 3: 1016-1020
35. Wild-Bode C., Yamazaki T., Capell A., Leimer U., Steiner H., Ihara Y. et al. (1997) Intracellular generation and accumulation of amyloid-β-peptide terminating at amino acid 42. J. Biol. Chem. 272: 16085-16088
36. Citron M., Oltersdorf T., Haass C., McConlogue L., Hung A. Y., Seubert P. et al. (1992) Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production. Nature 360: 672-674
37. Cai X.-D., Golde T. E. and Younkin S. G. (1993) Release of excess amyloid β protein from a mutant amyloid β protein precursor. Science 259: 514-516
38. Citron M, Diehl T., Gordon G., Biere A., Seubert P. and Selkoe D. (1996) Evidence that the 42- and 40-amino acid forms of amyloid β protein are generated from the β-amyloid precursor protein by different protease activities. Proc. Natl. Acad. Sci. USA 93: 13170-13175
39. Suzuki N., Cheung T. T., Cai X. D., Odaka A., Otvos L. Jr., Eckman C. et al. (1994) An increased percentage of long amyloid β protein secreted by familial amyloid β protein precursor (βAPP717) mutants. Science 264: 1336-1340
40. Jarrett J., Berger E. and Lansbury P. (1993) The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease. Biochemistry 32: 4693-4697
41. Scheuner D., Eckman C., Jensen M., Song X., Citron M., Suzuki N. et al. (1996) Secreted amyloid-β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nature Med. 2: 864-870
42. Games D., Adams D., Alessandrini R., Barbour R., Berthelette P., Blackwell C. et al. (1995) Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein. Nature 373: 523-527
43. Hsiao K., Chapman P., Nilsen S., Eckman C., Harigaya Y., Younkin S. et al. (1996) Correlative memory deficits, Aβ elevation and amyloid plaques in transgenic mice. Science 274: 99-102
44. Johnson-Wood K., Lee M., Motter R., Hu K., Gordon G., Barbour R. et al. (1997) Amyloid precursor protein processing and Aβ42 deposition in a transgenic mouse model of Alzheimer's disease. Proc. Natl. Acad. Sci. USA 94: 1550-1555
45. Bales K. R., Verina T., Dodel R. C., Du Y., Altstiel L., Bender M. et al. (1997) Lack of apolipoprotein E dramatically reduces amyloid β-peptide deposition. Nature Genet. 17: 263-264
46. Borchelt D. R., Ratovitski T., van Lare J., Lee M. K., Gonzales V., Jenkins N. A. et al. (1997) Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins. Neuron 19: 939-945
47. Borchelt D. R., Thinakaran G., Eckman C. B., Lee M. K., Davenport F., Ratovitsky T. et al. (1996) Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron 17: 1005-1013
48. Duff K., Eckman C, Hutton M., Perez-Tur J., Younkin S. and Hardy J. (1996) Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature 383: 710-713
49. Citron M., Westaway D., Xia W., Carlson G., Diehl T., Levesque G. et al. (1997) Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nature Med. 3: 67-72
50. Bullido M. J., Artiga M. J., Recuero M., Sastre I., Garcia M. A., Aldudo J. et al. (1998) A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia. Nature Genet. 18: 69-71